摘要:

Chromosome analysis was performed in 17 children ith IgA‐deficiency. In two patients a constitutional structural chromosome abnormality was found. A ring chromosome 22 was seen in one, while in the other a mosaicism of ring chromosome 18/18p+ was observed. Both patients wcre metanlly retarded and showed distinct congénital defects. From ten asymptomatic patients, spontaneous as well as X‐ray‐induced chromosome instability was investigated. There was no increased spontaneous instability, and also after irradiation the induced chromosome damage was within normal control levels. A relationship between IgA‐deficiency and X‐ray hypersensitivity, as might be suggested by the frequently occurring coïncidence of radiosensitivi‐ty and IgA‐deficiency in ataxia teleangiectasia patients, is

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03330.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main fcatures are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel‐like faciès and delayed psychomotor development. X‐ray findings include metaphysal flare, V‐shaped femoral meta‐physes and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and d

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03331.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

The myotubular myopathies are a heterogeneous group of muscle disorders in which x‐linked, autosomal recessive, and autosomal dominant inheritance hâve been reported. Female carriers of x‐linked myotubular myopathy have been reported to have abnormal muscle biopsies. We report a woman who had a normal muscle biopsy but who had 2 sons with myotubular myopathy by different fathers, indicating that a normal muscle biopsy of the mother cannot exclude x‐linked inheritance. The quantity of fetal activity correlated with the severity of the disorder in this pe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03332.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Sixty‐four patients with pseudoxanthoma elasticum (PXE) were investigated in a nationwide study within South Africa and Zimbabwe. Thirty‐nine individuals formed a distinct clinical subgroup. Thèse persons were found exclusively among people of Afrikaner descent, whose origins are mainly derived from Dutch and French‐Huguenot stock. This disorder was inherited as an autosomal recessive trait and presented mild to moderate cutaneous and cardiovascular manifestations. However, after the third decade of life severe visual impairment developed and culminated in blindness in 8 people by the age of 50. The cause of the visual defect was progressive extension of angioid streaks into the macula with neovascularization and haemor‐rhage. Laser therapy may have prevented further bleeding in 4 instances. The severity of ocular involvcment contrasted with the mildness of the skin changes, and in this respect the condition seems to differ from previously delineated autosomal recessive form

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03333.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

The incidence of all diagnosed cases of familial dysautonomia in Israel among Ashkenazi Jews from 1977–1981 was 27/100,000 or 1/3703. This incidence is higher than that previously reported in Israel in 1967 of 8.3/100,000 (1/12,048) (Moses et al. 1967). It is also higher than that of North American Ashkenazi Jews in 1970, when the rate was 5–10/100,000 (1/ 10,000–20,000) (Brunt&McKusick 1970). This higher incidence could be explained by current awareness of the diagnosis, or by the emergence of more

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03334.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

An adult female with severe mental retardation and dysmorphic features is described. Ade novochromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (pl2→p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23→8pter, showed that the patient was monosomic for this marker. Thus thede novorearrangement generated a duplication‐deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are disc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03335.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Oxygen radical scavengers significantly reduced the number of sister chromatid exchanges in Chinese hamster ovary cells exposed to an oxygen radical‐generating enzyme System. When vitamin E was combined with these antioxidants, no genetic toxicity was observe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03336.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five “backcross families” studied for chromosome 15 polymorphisms we found only negative lod scores, and at thêta = 0.10 a negative score of ‐3.42; i.e., in our material we did not find any confirmation of the indication of linkage between dyslexia and a chromosome 15 polymorphism found in part of their material by Smith et al. (1983,

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03337.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Hereditary hypotrichosis simplex of the scalp is a rare trait with onset in early childhood. This phenomenon has been reported only once previously, in a Spanish kindred. This communication describes a case in a Jcwish‐Yemenite kindred with 51 affected individuals and confirms autosomal dominant inheritanc

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03338.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY

摘要:

Red hair color (RHC) was studied in a Danish material of normal families that was tested earlier for 65 marker Systems. We found 4.85% of the parents to be red‐baired or to have been so early in life. Scoring RHC for linkage as an autosomal dominant against blond and as hypostatic to dark hair gave a lod score of z=5.50 at=0.05 in maies and=0.24 in females for the MNS blood group System; this assigns a major locus for red hair to chromosome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1987.tb03339.x

出版商:Blackwell Publishing Ltd    

年代:1987

数据来源: WILEY